L14F (p.Leu14Phe) variant of PRKG1 (cGMP-dependent protein kinase 1)
L14F (p.Leu14Phe) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs763460888
- ExAC rs763460888
- TOPMed rs763460888
- gnomAD rs763460888
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- MetaLR 0.31
- MetaSVM -0.26
- CADD 22.60
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available